[P2-184] GENOTYPE: PHENOTYPE SPECTRUM OF NEURODEGENERATIVE DISORDERS IN PAKISTAN
Neurodegenerative disorders are one of most common neurological disorders in children particularly in countries where consanguineous marriages are prevalent like Pakistan. The tremendous advancement in the field of molecular genetics has unrevealed many mysteries regarding most of these neurological disorders. To find out the genotype: phenotype correlation this study was conducted at the Pediatric Neurology department of Children’s Hospital Lahore. After IRB approval, 92 families were selected. Blood specimen was sent from patients, healthy sibling and both parents to Lab for whole exom sequencing (WES). Skin biopsy samples were taken in selected patients. There were 51% males and 49% females with age ranges from 5 months to 18 years. Out of these 55% patients had developmental delay and 44.5% were have regression. Hearing impairment was found in 7% patients while vision was affected in 12% patients. Speech was affected in 66% patients while 43% patients had history of fits. Autistic spectrum of disorders were observed in 20% patients. Microcephaly was seen in 19% cases. Out of all families, 41% had more than one sibling affected. On neuroimaging, leukodystrophy was seen in 19.5 %patients. Cerebellar atrophy was observed in 15% patients while 17% patients had cerebral atrophy. On further genetic analysis, 47 (51%) patients had known gene mutation while 45 (48.9%) patients had novel gene mutation. Genetic analysis of the families having a sibling of inherited neurological disorder can help in precise diagnosing, management plan and genetic counseling.